Article
Medicine, General & Internal
Yoshiaki Shimada, Masayuki Shibuya, Kei Shinoda
Summary: This study observed changes in mfERGs before and after retinal photocoagulation, finding that the amplitude in the irradiated area transiently increased post-treatment and then significantly decreased, indicating dynamic alterations in retinal function following the procedure.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Ophthalmology
Judy E. Kim, Oren Tomkins-Netzer, Michael J. Elman, David R. Lally, Michaella Goldstein, Dafna Goldenberg, Shiri Shulman, Gidi Benyamini, Anat Loewenstein
Summary: This study compared the performance of the NVHO device and a commercial OCT device in identifying retinal fluid in patients with age-related macular degeneration. The results showed that the NVHO device can produce high-quality images suitable for fluid identification, suggesting its potential to complement standard clinical assessments and treatments.
Article
Multidisciplinary Sciences
Cengiz Tuerksever, Christian Pruente, Katja Hatz
Summary: The study demonstrates that high-frequency SD-OCT follow-up can effectively adjust treatment plans for nAMD patients, leading to significant improvements in BCVA, CRT, and SRF.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Mousa Moradi, Yu Chen, Xian Du, Johanna M. Seddon
Summary: The study aimed to improve AMD detection by optimizing retinal layer segmentation and deep ensemble learning. An algorithm combining graph-cut and cubic spline was used to annotate retinal boundaries, and a deep ensemble mechanism was applied for deep learning. The results showed that the developed model exhibited significantly better segmentation performance compared to previous methods, and achieved higher diagnostic accuracy in AMD classification.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Genetics & Heredity
Sandra Martins, Ashraf Yahia, Ines P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Duenas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, Antonio Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros
Summary: Machado-Joseph disease (MJD/SCA3) is the most common dominant ataxia worldwide, caused by a (CAG)n expansion. This study reports the first diagnosed MJD case in Sudan, with genetic analysis revealing shared ancestry with Portuguese, Spanish, and North American families. The STR-based haplotype of the Sudanese patients is distinct, indicating a unique genetic background.
Review
Genetics & Heredity
Ashraf Yahia, Giovanni Stevanin
Summary: Hereditary spinocerebellar degeneration (SCD) comprises a group of rare diseases with diverse clinical and genetic characteristics, making diagnosis and management challenging. Precision medicine relies on accurate diagnosis, and discovering genes causing unknown conditions can guide patient and family management and lead to the identification of more genetic diseases.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Bing Liu, Aocai Yang, Wenwen Gao, Yue Chen, Yige Wang, Xiuxiu Liu, Kuan Lv, Linwei Zhang, Guolin Ma
Summary: This study investigated the whole-brain patterns of altered cerebral blood flow (CBF) in patients with spinocerebellar degeneration (SCD) and its correlations with disease severity and psychological abnormalities. The results showed that decreased CBF was associated with disease severity and depression status in SCD patients.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Ophthalmology
Niklas Mohr, Mehdi Shajari, Daniel Krause, Stefan Kassumeh, Jakob Siedlecki, Siegfried G. Priglinger, Wolfgang J. Mayer, Nikolaus Luft
Summary: The study indicates that wide-field spectral-domain optical coherence tomography is reliable in distinguishing between pellucid marginal degeneration and keratoconus, with the potential to be a useful tool for differentiation between these two ectatic diseases.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Multidisciplinary Sciences
Kim K. L. Bellamy, Fredrik S. Skedsmo, Josefin Hultman, Ellen F. Arnet, Albert Guttersrud, Hege Kippenes Skogmo, Stein Istre Thoresen, Arild Espenes, Karin Hultin Jaderlund, Frode Lingaas
Summary: A novel candidate gene for ataxia has been identified in Norwegian elkhound black, which can serve as a spontaneous model for better understanding of ataxia, both in dogs and humans. The discovery of a disease-associated mutation in HACE1 gene provides important insights into the pathogenesis of ataxia.
Article
Multidisciplinary Sciences
Teresa Araujo, Guilherme Aresta, Ursula Schmidt-Erfurth, Hrvoje Bogunovic
Summary: This study performs a comparative analysis of uncertainty estimation methods for out-of-distribution (OOD) detection in automated screening and staging of age-related macular degeneration (AMD) using retinal OCT imaging. The combination of cosine distance in the feature space and a few-shot outlier exposure (OE) approach improves the near-OOD detection performance, providing robust and reliable diagnostic systems.
SCIENTIFIC REPORTS
(2023)
Article
Computer Science, Artificial Intelligence
Maidina Nabijiang, Xinjuan Wan, Shengsong Huang, Qi Liu, Bixia Wei, Jianing Zhu, Xiaodong Xie
Summary: Due to the increase in the number of diabetic patients, diabetic retinopathy has attracted considerable research interest. The authors propose a novel block attention mechanism to explore the role of attention mechanisms in recognizing retinopathy features. Experimental results show that this mechanism outperforms existing baseline methods on two public datasets.
IET IMAGE PROCESSING
(2022)
Editorial Material
Medicine, General & Internal
Lucilla Barbano, Giulio Antonelli, Mariacristina Parravano, Eliana Costanzo, Vincenzo Parisi, Lucia Ziccardi
Summary: This case study describes the macular morpho-functional assessment of a 65-year-old man affected by stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR). The study revealed impaired function of the retinal elements involved in the retinoschisis, suggesting signaling defects derived from the delaminated middle retina and transmitted to the innermost retinal layers.
Article
Biochemistry & Molecular Biology
Yuya Takita, Eriko Sugano, Kazuya Kitabayashi, Kitako Tabata, Akito Saito, Takanori Yokoyama, Reina Onoguchi, Tomokazu Fukuda, Taku Ozaki, Lanlan Bai, Hiroshi Tomita
Summary: This study used multifocal electroretinography to evaluate focal retinal function in rats exposed to continuous light. The results showed a significant decrease in retinal function after 24 hours of light exposure, with a regional dependency in retinal damage.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Lyvia Zhang, Elon H. C. Van Dijk, Enrico Borrelli, Serena Fragiotta, Mark P. Breazzano
Summary: Optical coherence tomography (OCT) is a noninvasive imaging modality that uses low coherence light waves to assess ocular characteristics. OCT angiography (OCTA) is a functional extension that captures tissue and blood flow, allowing measurement of ischemia and vasculature demarcation. Different iterations of OCT, such as spectral-domain (SD) and swept-source (SS), have different wavelengths and tissue penetration capacities.
Article
Ophthalmology
Mengxi Shen, Qinqin Zhang, Jin Yang, Hao Zhou, Zhongdi Chu, Xiao Zhou, William Feuer, Xiaoshuang Jiang, Yingying Shi, Luis de Sisternes, Mary K. Durbin, Ruikang K. Wang, Giovanni Gregori, Philip J. Rosenfeld
Summary: The characteristics of treatment-naive nonexudative macular neovascularization in age-related macular degeneration before the onset of exudation were investigated using swept-source optical coherence tomography angiography. The onset of exudation was correlated with less vascularity and smaller pigment epithelial detachment volume, while no significant differences were observed in macular neovascularization area, choriocapillaris flow deficits, mean choroidal thickness, or choroid vascularity index measurements. More investigations are needed to explore these and other anatomical changes as predictors of near-term exudation.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Neurosciences
Stefano Filippo Castiglia, Dante Trabassi, Antonella Tatarelli, Alberto Ranavolo, Tiwana Varrecchia, Lorenzo Fiori, Davide Di Lenola, Ettore Cioffi, Manikandan Raju, Gianluca Coppola, Pietro Caliandro, Carlo Casali, Mariano Serrao
Summary: This study aimed to assess the ability of 25 gait indices to characterize gait instability and recurrent fallers among persons with primary degenerative cerebellar ataxia (pwCA), regardless of gait speed, and investigate their correlation with clinical and kinematic variables. The study found that certain gait indices can effectively characterize gait instability and fallers among pwCA patients, and are correlated with disease severity and gait duration.
Article
Medicine, General & Internal
Lucilla Barbano, Lucia Ziccardi, Giulio Antonelli, Carolina Gabri Nicoletti, Doriana Landi, Giorgia Mataluni, Benedetto Falsini, Girolama Alessandra Marfia, Diego Centonze, Vincenzo Parisi
Summary: This study aimed to obtain functional information of localized innermost retinal layers (IRL) by measuring the photopic negative response (PhNR) in response to multifocal stimuli (mfPhNR). The results showed that mfPhNR recordings could detect localized IRL dysfunction in patients with multiple sclerosis.
Letter
Medicine, Research & Experimental
Giuseppe Granata, Benedetto Falsini
Article
Food Science & Technology
Gabriele Sebastianelli, Francesco Casillo, Antonio Di Renzo, Chiara Abagnale, Ettore Cioffi, Vincenzo Parisi, Cherubino Di Lorenzo, Mariano Serrao, Francesco Pierelli, Jean Schoenen, Gianluca Coppola
Summary: This study investigated the effect of one session of pericranial BoNT-A injections on the nociceptive and lemniscal sensory systems in chronic migraine patients. The results showed that after 3 months of treatment, there were changes in pain perception and neural reflexes, suggesting that BoNT-A can modulate the trigeminal system by reducing input from meningeal and trigeminovascular nociceptors, and restore the normal pain processing function in the brain.
Article
Medicine, General & Internal
Andrea Cusumano, Benedetto Falsini, Fabian D'Apolito, Michele D'Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina
Summary: In this study, a longitudinal structure-function evaluation was performed on a patient with CDHR1-related retinal dystrophy over three years. The results showed that the patient experienced progressive visual loss accompanied by increased inner retinal thickness, while the outer retina remained unchanged. These findings suggest that inner retinal changes may be relevant for therapeutic interventions aiming to mitigate photoreceptor loss through gene therapy or stem cells.
Article
Medicine, General & Internal
Martina Maceroni, Benedetto Falsini, Marco Luigetti, Angela Romano, Valeria Guglielmino, Romina Fasciani, Giorgio Placidi, Elena D'Agostino, Paola Sasso, Stanislao Rizzo, Angelo Maria Minnella
Summary: The study investigated ocular findings in pre-symptomatic carriers of hereditary transthyretin amyloidosis (ATTRv). Retrospective evaluation of 14 ATTRv pre-symptomatic carriers revealed reduced central macular thickness and outer nuclear layer thickness. Additionally, they exhibited an attenuated retinal vascular network and an augmented PhNR amplitude compared to healthy controls. These ocular abnormalities in pre-symptomatic carriers could be important biomarkers for early detection of ATTRv.
Article
Medicine, General & Internal
Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella
Summary: This study used artificial intelligence to analyze retinal vasculopathy in FSHD patients. The results showed increased tortuosity in retinal arteries and decreased tortuosity in the deep capillary plexus in FSHD patients. In addition, the study found increased vessel density scores and a decrease in vessel density and vascular branches with age. Understanding retinal vasculopathy in FSHD can provide insights into disease pathogenesis and potential biomarkers.
Article
Medicine, General & Internal
Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D'Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Summary: This study investigated the age-related changes and central retinal impairment in patients with EYS gene mutations. It found a positive correlation between RP stage scoring system (RP-SSS) and age, as well as a correlation between RP-SSS and central retina atrophy (CRA) area. Additionally, visual acuity and ellipsoid zone width were correlated with CRA, but not electroretinogram (ERG).
Article
Clinical Neurology
Gabriele Sebastianelli, Francesco Casillo, Chiara Abagnale, Antonio Di Renzo, Ettore Cioffi, Vincenzo Parisi, Cherubino Di Lorenzo, Federica Fazio, Fausto Petricola, Consalvo Mattia, Mariano Serrao, Jean Schoenen, Gianluca Coppola
Summary: This study found that central neuronal circuits are highly sensitized in patients with CM-MOH, both at the thalamocortical and cortical levels. The observed changes may be due to dysfunctional central pain control mechanisms, as well as hypersensitivity and hyperresponsiveness directly linked to the chronic intake of acute migraine drugs.
Article
Genetics & Heredity
Stefania Zampatti, Cristina Peconi, Giulia Calvino, Rosangela Ferese, Stefano Gambardella, Raffaella Cascella, Jacopo Sebastiani, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina
Summary: In this study, a causative gene RDH8 for Stargardt macular dystrophy was identified in a consanguineous Italian family using a combined approach and multilevel validation. The disease phenotype was consistent with previous murine models. This study provides evidence for a splicing mutation in a gene that has not been reported in human disorders before.
Review
Genetics & Heredity
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri, Alessandra Tessa
Summary: Hereditary spastic paraplegia (HSP) is a group of neurological disorders characterized by corticospinal degeneration. Next-generation sequencing (NGS) has greatly improved our understanding of HSP genetics and accelerated the molecular diagnosis process. The use of targeted resequencing panels and exome sequencing is most commonly employed in NGS-based approaches for HSP, while genome sequencing is less commonly used due to its high costs. This article aims to analyze the diagnostic power of different NGS techniques in HSP by reviewing selected studies in genetically uncharacterized HSP patients.
Article
Biochemistry & Molecular Biology
Giuseppe Tringali, Michela Pizzoferrato, Lucia Lisi, Silvia Marinelli, Lucia Buccarello, Benedetto Falsini, Antonino Cattaneo, Pierluigi Navarra
Summary: The clinical use of human NGF (hNGF) is limited to ocular pathologies, but its analog, painless NGF (pNGF), may have a better benefit/risk ratio in the treatment of ocular disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Vincenzo Parisi, Lucilla Barbano, Giulio Antonelli, Carolina Gabri Nicoletti, Doriana Landi, Giorgia Mataluni, Antonio Di Renzo, Fabio Buttari, Girolama Alessandra Marfia, Diego Centonze, Lucia Ziccardi
Summary: This study investigated the potential correlation between morphological and functional parameters of retinal ganglion cells (RGCs) in the macula in eyes with multiple sclerosis and a history of optic neuritis. The results showed a topographical correlation between the structural and functional impairment of macular RGCs in eyes with multiple sclerosis and optic neuritis.
JOURNAL OF CLINICAL MEDICINE
(2023)